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[中国汉族和彝族核糖体RNA基因多态性研究]

[Study on polymorphism of ribosomal RNA gene in Chinese Hans and Yis].

作者信息

Yuan S, Jiang W, Lu Y, Fei H, Chen R

机构信息

Department of Biology, Shanghai Second Medical University.

出版信息

Yi Chuan Xue Bao. 1994;21(3):173-8.

PMID:7917430
Abstract

In the secondary constriction region of the short arm of human group D and group G acrocentric chromosomes there are tandemly repeated sequences of transcriptable segments and non-transcriptable spacers of rRNA genes. In the non-transcriptable spacer segments there is a polymorphic region with length variation. This paper reports the results obtained when the BamHI digested products of genomic DNA from 36 cases of Han nationality and those from 40 cases of Yi nationality were probed with a cDNA subprobe, pA(BE), which corresponds to the downstream one third of the 28S rRNA gene and is 1.6kb long with BamHI and EcoRI restriction sites at its two terminal respectively, using Southern blotting and molecular hybridization techniques. A total of 10 different restriction fragments were detected. Four fragments (7.9, 4.9, 4.0 and 1.2 kb) were seen in all subjects tested and the frequencies of six other polymorphic fragments in Hans and Yis (10.0, 9.4, 8.5, 6.7 6.0 and 3.0 kb) showed no significant difference when compared to each other. From the 10 different patterns of combination of restriction fragments four of them (1HY, 2HY, 3HY and 4HY) were detected in both Hans and Yis with no significant difference between their respective frequencies. Four other patterns (5H, 6H, 7H and 8H) were only seen in Hans with individual frequencies not high enough to be statistically significant. However, the statistical test for the combined frequencies of these four patterns showed highly significant difference between Hans and Yis (P < 0.01).(ABSTRACT TRUNCATED AT 250 WORDS)

摘要

在人类D组和G组近端着丝粒染色体短臂的次缢痕区域,存在着rRNA基因的可转录片段和非转录间隔区的串联重复序列。在非转录间隔区有一个长度可变的多态性区域。本文报道了用对应于28S rRNA基因下游三分之一、长度为1.6kb且两端分别有BamHI和EcoRI酶切位点的cDNA亚探针pA(BE),采用Southern印迹和分子杂交技术,对36例汉族和40例彝族基因组DNA的BamHI酶切产物进行检测的结果。共检测到10种不同的酶切片段。在所有检测对象中均可见4种片段(7.9、4.9、4.0和1.2kb),汉族和彝族中另外6种多态性片段(10.0、9.4、8.5、6.7、6.0和3.0kb)的频率相互比较无显著差异。在汉族和彝族中均检测到10种不同酶切片段组合模式中的4种(1HY、2HY、3HY和4HY),其各自频率无显著差异。另外4种模式(5H、6H、7H和8H)仅在汉族中出现,个体频率不够高,无统计学意义。然而,对这4种模式的合并频率进行统计学检验显示,汉族和彝族之间存在高度显著差异(P<0.01)。(摘要截于250字)

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